Featured Publications
The Human Knockout Gene CLYBL Connects Itaconate to Vitamin B12
Shen H, Campanello GC, Flicker D, Grabarek Z, Hu J, Luo C, Banerjee R, Mootha VK. The Human Knockout Gene CLYBL Connects Itaconate to Vitamin B12. Cell 2017, 171: 771-782.e11. PMID: 29056341, PMCID: PMC5827971, DOI: 10.1016/j.cell.2017.09.051.Peer-Reviewed Original ResearchConceptsMethylmalonyl-CoA mutaseCitramalyl-CoA lyaseAnti-microbial metabolitesCell-autonomous defectSubstrate analogue inhibitorsMammalian cellsStructural biologyPathway assignmentItaconyl-CoAMitochondrial enzymesCellular activitiesMetabolic pathwaysDependent methylmalonyl-CoA mutaseHomozygous lossConsistent phenotypeConsequence of exposureVertebratesCellsEnzymologyBiologyMutaseLyasePhenotypeEnzymePathway
2023
The C-terminal tail of polycystin-1 suppresses cystic disease in a mitochondrial enzyme-dependent fashion
Onuchic L, Padovano V, Schena G, Rajendran V, Dong K, Shi X, Pandya R, Rai V, Gresko N, Ahmed O, Lam T, Wang W, Shen H, Somlo S, Caplan M. The C-terminal tail of polycystin-1 suppresses cystic disease in a mitochondrial enzyme-dependent fashion. Nature Communications 2023, 14: 1790. PMID: 36997516, PMCID: PMC10063565, DOI: 10.1038/s41467-023-37449-1.Peer-Reviewed Original ResearchConceptsPolycystin-1Nicotinamide nucleotide transhydrogenaseTerminal tailCystic phenotypeAutosomal dominant polycystic kidney diseaseCyst cell proliferationC-terminal domainAmino acid residuesLethal monogenic disorderC-terminal cleavageNucleotide transhydrogenaseAcid residuesMitochondrial functionTransgenic expressionPKD1 geneRedox stateShort fragmentsCell proliferationMonogenic disordersDominant polycystic kidney diseasePolycystic kidney diseaseGene therapy strategiesProteinPhenotypeFragments